14 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:77 | gastrointestinal system disease | A disease of anatomical entity that is located_in the gastrointestinal tract. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:3118 | hepatobiliary disease | A gastrointestinal system disease that is located_in the liver and/or biliary tract. |
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| DOID:4138 | bile duct disease | A biliary tract disease located_in one or more bile ducts. |
| DOID:9741 | biliary tract disease | A hepatobiliary disease that is located_in the biliary tract. |
| DOID:1852 | intrahepatic cholestasis | A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. |
| DOID:0070221 | progressive familial intrahepatic cholestasis | An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. |
| DOID:13580 | cholestasis | A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. |
| DOID:0070225 | progressive familial intrahepatic cholestasis 5 | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0070221 | DOID:0070225 |
| is_a | DOID:0050737 | DOID:0070225 |
| is_a | DOID:630 | DOID:0070225 |
| is_a | DOID:0050177 | DOID:0070225 |
| is_a | DOID:9741 | DOID:0070225 |
| is_a | DOID:1852 | DOID:0070225 |
| is_a | DOID:3118 | DOID:0070225 |
| is_a | DOID:77 | DOID:0070225 |
| is_a | DOID:4138 | DOID:0070225 |
| is_a | DOID:0050739 | DOID:0070225 |
| is_a | DOID:4 | DOID:0070225 |
| is_a | DOID:13580 | DOID:0070225 |
| is_a | DOID:7 | DOID:0070225 |
